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449 research outcomes, page 1 of 45
  • publication . Article . 2016
    Open Access English
    Authors:
    Samantha Lent; Xuan Deng; L. Adrienne Cupples; Kathryn L. Lunetta; CT Liu; Yanhua Zhou;
    Publisher: Springer Nature
    Project: NIH | Identifying variants caus... (5U01DK085545-02), NIH | GENETICS OF GALLBLADDER D... (5R01DK053889-04), NIH | Genetic Analysis of Commo... (5R01GM031575-22), NIH | Interdisciplinary Trainin... (5T32GM074905-03), NIH | Identifying T2D Variants ... (1U01DK085584-01), NIH | Identification and Replic... (5U01DK085501-02), NIH | Discovery of Functional V... (5U01DK085524-05), NIH | Multiethnic Study of Type... (5U01DK085526-05), NIH | NIDDM Susceptibility Gene... (5R01DK047482-13)

    Background Recent focus on studying rare variants makes imputation accuracy of rare variants an important issue. Many approaches have been proposed to increase imputation accuracy among rare variants, from reference panel selection to combinations of existing methods to...

  • publication . Article . 2011
    Open Access English
    Authors:
    Nock, NL; Zhang, LX;
    Publisher: Springer Nature
    Project: NIH | Genetic Analysis of Commo... (5R01GM031575-22), NIH | Pathway Modeling of Compl... (1K07CA129162-01A1)

    <p>Abstract</p> <p>Methods that can evaluate aggregate effects of rare and common variants are limited. Therefore, we applied a two-stage approach to evaluate aggregate gene effects in the 1000 Genomes Project data, which contain 24,487 single-nucleotide polymorphisms (...

  • publication . Article . 2009
    Open Access English
    Authors:
    Corina Shtir; Roger Pique-Regi; Kim Siegmund; John Morrison; Fredrick Schumacher; Paul Marjoram;
    Publisher: BioMed Central
    Project: NIH | Genetic Analysis of Commo... (5R01GM031575-22), NIH | Statistical Models in Epi... (1R01CA097346-01), NIH | CORE GRANT FOR VISION RES... (3P30EY003040-09S1), NIH | Pilot Project Program (5P30ES007048-17), NIH | LOS ANGELES LATINO EYE ST... (3U10EY011753-03S4)

    <p>Abstract</p> <p>In this paper we test for association between copy number variation and diabetes in a subset of individuals from the Framingham Heart Study. We used the 500 k SNP data and called copy number variation using two algorithms: the genome alteration detect...

  • publication . Article . 2014
    Open Access English
    Authors:
    Lizhen Xu; Radu V Craiu; Andriy Derkach; Andrew D Paterson; Lei Sun;
    Publisher: BioMed Central
    Project: NIH | Genetic Analysis of Commo... (5R01GM031575-22), NIH | Multiethnic Study of Type... (5U01DK085526-05), NIH | Identifying T2D Variants ... (1U01DK085584-01), NIH | Identification and Replic... (5U01DK085501-02), CIHR , NIH | Discovery of Functional V... (5U01DK085524-05), NIH | GENETICS OF GALLBLADDER D... (5R01DK053889-04), NIH | Identifying variants caus... (5U01DK085545-02), NIH | NIDDM Susceptibility Gene... (5R01DK047482-13)

    Pleiotropy, which occurs when a single genetic factor influences multiple phenotypes, is present in many genetic studies of complex human traits. Longitudinal family data, such as the Genetic Analysis Workshop 18 data, combine the features of longitudinal studies in ind...

  • publication . Article . 2011
    Open Access English
    Authors:
    Yang, Hsin-Chou; Chen, Chia-Wei;
    Publisher: Springer Nature
    Project: NIH | Genetic Analysis of Commo... (5R01GM031575-22)

    Quantitative trait locus (QTL) mapping using deep DNA sequencing data is a challenging task. In this study we performed region-based and pathway-based QTL mappings using a p-value combination method to analyze the simulated quantitative traits Q1 and Q4 and the exome se...

  • publication . Conference object . Article . 2009
    Open Access English
    Authors:
    Clarke, Geraldine M; Pettersson, Fredrik H; Morris, Andrew P;
    Project: NIH | Genetic Analysis of Commo... (5R01GM031575-22), WT

    <p style="text-align:justify;"> We compare and contrast case-only designs for detecting gene × gene (G × G) interaction in rheumatoid arthritis (RA) using the genome-wide data provided by Genetic Analysis Workshop 16 Problem 1. Logistic as well as novel multinomial and ...

  • publication . Article . Other literature type . 2018
    Open Access English
    Authors:
    Elise Lim; Hanfei Xu; Peitao Wu; Daniel Posner; Jiayi Wu; Gina M. Peloso; Achilleas N. Pitsillides; Anita L. DeStefano; L. Adrienne Cupples; Ching-Ti Liu;
    Publisher: BioMed Central
    Project: NIH | Genetic Architecture of A... (5R01DK089256-03), NIH | Genetic Analysis of Commo... (5R01GM031575-22)

    Abstract Background DNA methylation, an epigenetic modification, can be affected by environmental factors and thus regulate gene expression levels that can lead to alterations of certain phenotypes. Network analysis has been used successfully to discover gene sets that ...

  • publication . Article . 2009
    Open Access English
    Authors:
    Buil, Alfonso; Martinez-Perez, Angel; Perera-Lluna, Alexandre; Leonor Rib; Caminal, Pere; Soria, Jose Manuel;
    Publisher: BMC
    Project: NIH | Genetic Analysis of Commo... (5R01GM031575-22), NIH | Genetic Analysis of Idiop... (5R01HL070751-03)

    Genome-wide association studies are widely used today to discover genetic factors that modify the risk of complex diseases. Usually, these methods work in a SNP-by-SNP fashion. We present a gene-based test that can be applied in the context of genome-wide association st...

  • publication . Article . 2016
    Open Access English
    Authors:
    Konigorski S; Ye, Yilmaz; Tobias Pischon;
    Publisher: BioMed Central
    Project: NIH | Genetic Analysis of Commo... (5R01GM031575-22)

    Recent work on genetic association studies suggests that much of the heritable variation in complex traits is unexplained, which indicates a need for using more biologically meaningful modeling approaches and appropriate statistical methods. In this study, we propose a ...

  • publication . Article . 2011
    Open Access English
    Authors:
    Hu, Pingzhao; Xu, Wei; Cheng, Lu; Xing, Xiang; Paterson, Andrew D;
    Publisher: BioMed Central
    Project: NIH | Genetic Analysis of Commo... (5R01GM031575-22)

    <p>Abstract</p> <p>Pathway-based analysis has been recently used in joint tests of association between disease and a group of common genetic variants. Here we explore this idea for the joint effects analysis of rare genetic variants and their association with quantitati...

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